Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
Duplication | NM_006231.4(POLE):c.3510dup (p.Leu1171fs) | POLE | Pathogenic | 12 | 133233793 | 133233794 | G | GT | criteria provided, single submitter | ClinGen:CA16613592 |
single nucleotide variant | NM_006231.4(POLE):c.4006-1G>T | POLE | Likely pathogenic | 12 | 133225659 | 133225659 | C | A | criteria provided, single submitter | ClinGen:CA16043996 |
single nucleotide variant | NM_006231.4(POLE):c.1270C>G (p.Leu424Val) | POLE | Pathogenic | 12 | 133250250 | 133250250 | G | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA130722,UniProtKB:Q07864#VAR_069344,OMIM:174762.0001 |
single nucleotide variant | NM_002691.4(POLD1):c.1421T>C (p.Leu474Pro) | POLD1 | Pathogenic/Likely pathogenic | 19 | 50909701 | 50909701 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA170564,UniProtKB:P28340#VAR_071966,OMIM:174761.0004 |
single nucleotide variant | NM_002691.4(POLD1):c.1433G>A (p.Ser478Asn) | POLD1 | Pathogenic/Likely pathogenic | 19 | 50909713 | 50909713 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA130715,UniProtKB:P28340#VAR_069335,OMIM:174761.0001 |